Incidental Mutation 'IGL02396:Golga2'
ID 294362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Golga2
Ensembl Gene ENSMUSG00000002546
Gene Name golgi autoantigen, golgin subfamily a, 2
Synonyms GM130
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.894) question?
Stock # IGL02396
Quality Score
Status
Chromosome 2
Chromosomal Location 32287384-32307921 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 32298644 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000081670] [ENSMUST00000100194] [ENSMUST00000113377] [ENSMUST00000129193] [ENSMUST00000139494]
AlphaFold Q921M4
Predicted Effect probably benign
Transcript: ENSMUST00000081670
SMART Domains Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
coiled coil region 105 173 N/A INTRINSIC
low complexity region 189 202 N/A INTRINSIC
low complexity region 301 313 N/A INTRINSIC
Pfam:GOLGA2L5 337 955 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100194
SMART Domains Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
coiled coil region 176 244 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 372 384 N/A INTRINSIC
Pfam:GOLGA2L5 408 1026 2.1e-299 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113377
SMART Domains Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
low complexity region 45 51 N/A INTRINSIC
low complexity region 71 86 N/A INTRINSIC
coiled coil region 149 217 N/A INTRINSIC
low complexity region 233 246 N/A INTRINSIC
low complexity region 345 357 N/A INTRINSIC
Pfam:GOLGA2L5 381 999 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127276
Predicted Effect probably benign
Transcript: ENSMUST00000129193
SMART Domains Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 31 37 N/A INTRINSIC
low complexity region 57 72 N/A INTRINSIC
coiled coil region 136 176 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
coiled coil region 226 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131712
SMART Domains Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
coiled coil region 106 146 N/A INTRINSIC
low complexity region 162 175 N/A INTRINSIC
coiled coil region 196 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139494
SMART Domains Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 55 61 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146544
Predicted Effect probably benign
Transcript: ENSMUST00000147707
SMART Domains Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546

DomainStartEndE-ValueType
low complexity region 33 39 N/A INTRINSIC
low complexity region 86 101 N/A INTRINSIC
coiled coil region 165 205 N/A INTRINSIC
low complexity region 221 234 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149141
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,644,799 probably benign Het
Bmp3 C A 5: 98,872,719 Q334K possibly damaging Het
Bnc2 G T 4: 84,276,009 S1026R probably benign Het
Bsn C T 9: 108,116,046 G836S possibly damaging Het
Cand2 A G 6: 115,791,188 probably benign Het
Ccdc24 T C 4: 117,869,629 T296A possibly damaging Het
Ccdc38 A G 10: 93,574,132 N271S possibly damaging Het
Ccdc81 T G 7: 89,881,649 I362L probably benign Het
Cdhr3 T A 12: 33,045,196 I625F possibly damaging Het
Col12a1 T A 9: 79,662,583 R1568S probably benign Het
Cpeb4 T A 11: 31,925,441 S547T probably benign Het
Dennd4c T A 4: 86,825,000 N1075K probably damaging Het
Esrra C A 19: 6,912,005 V339L probably benign Het
Ghr A T 15: 3,457,998 M1K probably null Het
Gm4987 T A X: 46,456,114 noncoding transcript Het
Gm5096 A G 18: 87,756,656 E101G possibly damaging Het
Gys1 T A 7: 45,439,588 I137N probably damaging Het
Hs3st5 A T 10: 36,828,703 M1L probably benign Het
Hsd3b5 T A 3: 98,622,027 T96S probably benign Het
Ighv6-3 T C 12: 114,391,736 D111G probably damaging Het
Immp1l T A 2: 105,937,006 I70N probably damaging Het
Ints4 G A 7: 97,537,900 V866I possibly damaging Het
Large2 G T 2: 92,366,323 Y529* probably null Het
Maf1 C A 15: 76,353,257 Y166* probably null Het
Manba T A 3: 135,544,764 M384K probably damaging Het
Mapk4 C A 18: 73,933,997 probably null Het
Mc5r T C 18: 68,339,466 S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 N1404K probably damaging Het
Milr1 C A 11: 106,765,239 Y212* probably null Het
Ncor2 A G 5: 125,037,914 S1115P probably damaging Het
Olfr1122 A T 2: 87,387,705 probably benign Het
Olfr1314 C A 2: 112,092,467 C78F probably benign Het
Osbpl7 T G 11: 97,055,551 L158R probably damaging Het
Psmd4 A T 3: 95,035,910 L61Q probably damaging Het
Rassf9 A T 10: 102,545,693 N310I possibly damaging Het
Rpl21-ps6 A G 17: 55,915,400 noncoding transcript Het
Slc31a2 T C 4: 62,297,073 I119T probably damaging Het
Srgap2 C A 1: 131,292,675 C187F probably damaging Het
Tekt5 C A 16: 10,379,067 A307S probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn A G 2: 76,945,088 V1916A unknown Het
Wee1 T G 7: 110,142,093 V641G probably damaging Het
Zfand6 G A 7: 84,617,903 P157L probably damaging Het
Other mutations in Golga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Golga2 APN 2 32305214 missense probably benign 0.01
IGL01561:Golga2 APN 2 32296677 missense probably benign 0.00
IGL02636:Golga2 APN 2 32296723 critical splice donor site probably null
IGL02712:Golga2 APN 2 32304213 missense probably damaging 1.00
IGL03172:Golga2 APN 2 32292156 missense probably benign 0.04
IGL03193:Golga2 APN 2 32305008 missense probably damaging 1.00
little UTSW 2 32305984 nonsense probably null
R0050:Golga2 UTSW 2 32292127 missense probably damaging 0.96
R0050:Golga2 UTSW 2 32292127 missense probably damaging 0.96
R0265:Golga2 UTSW 2 32304952 splice site probably null
R0440:Golga2 UTSW 2 32302933 missense probably damaging 1.00
R0644:Golga2 UTSW 2 32297521 missense probably damaging 1.00
R0825:Golga2 UTSW 2 32304791 missense probably damaging 1.00
R1179:Golga2 UTSW 2 32303695 missense possibly damaging 0.50
R1447:Golga2 UTSW 2 32297776 missense possibly damaging 0.69
R1459:Golga2 UTSW 2 32297795 splice site probably null
R1517:Golga2 UTSW 2 32305984 nonsense probably null
R1522:Golga2 UTSW 2 32302204 missense probably benign 0.01
R1599:Golga2 UTSW 2 32303173 missense probably benign 0.00
R1702:Golga2 UTSW 2 32299275 missense probably damaging 1.00
R1716:Golga2 UTSW 2 32302897 missense probably damaging 1.00
R1777:Golga2 UTSW 2 32305470 splice site probably null
R1781:Golga2 UTSW 2 32306576 missense probably damaging 1.00
R2229:Golga2 UTSW 2 32306465 missense probably benign 0.06
R2484:Golga2 UTSW 2 32304770 missense probably benign 0.32
R2972:Golga2 UTSW 2 32305659 missense probably benign 0.16
R3411:Golga2 UTSW 2 32302942 missense probably damaging 0.98
R3851:Golga2 UTSW 2 32305611 missense probably benign 0.30
R3852:Golga2 UTSW 2 32305611 missense probably benign 0.30
R4130:Golga2 UTSW 2 32288166 missense probably benign 0.07
R4783:Golga2 UTSW 2 32297156 missense probably damaging 1.00
R4784:Golga2 UTSW 2 32297156 missense probably damaging 1.00
R4785:Golga2 UTSW 2 32297156 missense probably damaging 1.00
R4808:Golga2 UTSW 2 32303214 missense probably benign 0.00
R5103:Golga2 UTSW 2 32303746 missense probably benign 0.09
R5261:Golga2 UTSW 2 32304154 missense probably benign 0.02
R5315:Golga2 UTSW 2 32303761 missense probably damaging 1.00
R5508:Golga2 UTSW 2 32288187 nonsense probably null
R5627:Golga2 UTSW 2 32306047 nonsense probably null
R5921:Golga2 UTSW 2 32297755 missense probably benign 0.00
R6678:Golga2 UTSW 2 32299060 missense probably damaging 0.99
R7365:Golga2 UTSW 2 32303001 nonsense probably null
R7390:Golga2 UTSW 2 32288190 missense
R7395:Golga2 UTSW 2 32305587 missense possibly damaging 0.94
R7555:Golga2 UTSW 2 32288166 missense probably benign 0.07
R7640:Golga2 UTSW 2 32306239 missense probably benign
R8219:Golga2 UTSW 2 32306480 missense probably damaging 1.00
R8554:Golga2 UTSW 2 32293345 missense probably damaging 1.00
R9071:Golga2 UTSW 2 32288352 missense probably damaging 1.00
R9127:Golga2 UTSW 2 32306067 missense
R9214:Golga2 UTSW 2 32305810 missense probably damaging 1.00
R9537:Golga2 UTSW 2 32288301 unclassified probably benign
R9643:Golga2 UTSW 2 32303862 missense probably damaging 0.97
R9716:Golga2 UTSW 2 32299275 missense probably damaging 1.00
Posted On 2015-04-16